{"Name":"X-linked endothelial corneal dystrophy","DiseaseID__c":"GARD:0017339","id":17339,"encodedName":"x-linked-endothelial-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"X-linked endothelial corneal dystrophy","Xref_IDs__c":"718579008; C2749049; C567587; DOID:0060446; MEDGEN:413518; MONDO:0010426; OMIM:300779; ORPHA:293621","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010426","Disease_Description__c":"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.","GARD_Name__c":"X-linked endothelial corneal dystrophy","GARD_Synonym__c":"corneal dystrophy, endothelial, x-linked, x-linked dominant; x-linked endothelial dystrophy of cornea; xecd","Curated_Disease_Description_Source__c":"ORPHA:293621","Curated_Disease_Description__c":"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:293621","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010426","ORPHANET_ID__c":"ORPHA:293621","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal endotelial ligada al cromosoma x","Spanish_Description_Source__c":"ORPHA:293621","Spanish_Description__c":"La distrofia corneal endotelial ligada al cromosoma X (XECD) es un subtipo poco frecuente de distrofia corneal posterior (ver este término) caracterizada por manchas lechosas congénitas que presentan una apariencia de vidrio molido o de bruma difusa y visión borrosa en los pacientes varones.","Spanish_Disease_Name__c":"distrofia corneal endotelial ligada al cromosoma x","Spanish_GARD_Synonym__c":"xecd","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.","Curated_Disease_Description_Source__c":"ORPHA:293621","GARD_Synonym__c":"corneal dystrophy, endothelial, x-linked, x-linked dominant; x-linked endothelial dystrophy of cornea; xecd","Name":"X-linked endothelial corneal dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Corneal Dystrophy Foundation","Website__c":"https://www.cornealdystrophyfoundation.org/home"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:293621"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:293621"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/300779","Source__c":"C2749049; MONDO:0010426; ORPHA:293621","Xref__c":"OMIM:300779"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718579008","Source__c":"C2749049; MONDO:0010426","Xref__c":"718579008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=413518","Source__c":"C2749049","Xref__c":"MEDGEN:413518"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567587","Source__c":"MONDO:0010426","Xref__c":"C567587"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060446","Source__c":"MONDO:0010426","Xref__c":"DOID:0060446"},{"URL__c":"https://www.orpha.net/en/disease/detail/293621","Source__c":"C2749049; MONDO:0010426; ORPHA:293621","Xref__c":"ORPHA:293621"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2749049","Source__c":"C2749049","Xref__c":"C2749049"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010426","Source__c":"GARD:0017339","Xref__c":"MONDO:0010426"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:293621","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100018","HPO_Synonym__c":"Yellowish cloudy center of lens","HPO_Name__c":"Nuclear cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293621","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293621","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011488","HPO_Synonym__c":"Abnormality of corneal endothelium","HPO_Name__c":"Abnormal corneal endothelium morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293621","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293621","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293621","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293621","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000585","HPO_Synonym__c":"Calcific band keratopathy","HPO_Name__c":"Band keratopathy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["corneal dystrophy, endothelial, x-linked, x-linked dominant"," x-linked endothelial dystrophy of cornea"," xecd"]}